Molecular Genetics
Hypolipidemia and Hypocholesterolemia Panel
Background:
Lipid disorders comprise a group of heterogenic conditions often with overlapping clinical features such as abnormal levels of HDL, LDL, or triglycerides. Hypolipidemia is characterized by low levels of total, LDL and HDL cholesterol measured in serum. These may cause complications that include hyperthyroidism, recurrent infections and absorption of fat soluble vitamins. Specific conditions also include autosomal recessive abetalipoproteinemia and autosomal dominant hypobetalipoproteinemia, as well as hypocholesterolemia. This next-generation sequencing test is designed to detect mutations in the coding regions for 4 genes associated to hypolipidemia and hypocholesterolemia.
Reasons for Referral:
- Abnormally low levels of total serum cholesterol
- Clinical presentation consistent with a lipid disorder
- Positive family history (targeted testing is available if familial mutation is known)
- Carrier testing
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240).
Genes may be added or removed from the list below if clinically indicated.
Hypolipidemia and Hypocholesterolemia Panel (4 genes):
ANGPTL3, APOB, MTTP, PCSK9
Methodology:
Specimen Requirements:
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240).
Test Performed (Days):
Turn Around Time:
Shipment Sensitivity Requirements:
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240).
References:
Additional Info: